BECAUSE OF BELLA

Ryan and I were so excited to start a family together, we both knew we wanted a few children and that we were ready to be parents. I was very lucky to get pregnant easily and we found out we were pregnant with our first baby right before our honeymoon. Italy was a bit different than we expected but we were so thrilled I didn’t even care I wouldn’t indulge in the wine. We did all the testing available to us at the beginning of the pregnancy including the harmony test which tested for abnormal chromosomes and the counsyl test which at the time tested for about 100 genetic diseases. All of my tests came back normal and my OB described my pregnancy as “by the book.” We had zero concerns about anything and had no idea our lives were about to change forever.

 

On May 1, 2017 we welcomed Bella Mae into the world. She was born seemingly healthy. It was not until the second day in the hospital that we realized she had some concerning symptoms and she was sent down to the NICU. She spent two weeks in the NICU on oxygen and enduring countless tests. An MRI on her brain showed some brain damage that was indicative of a metabolic disorder. She puzzled doctors as all of her other tests came back normal or inconclusive. After breathing on her own for two days with the help of some caffeine, she was released from the hospital. We went home without any answers and were told to take it day by day. Ryan and I were devastated that Bella was likely to have some learning disabilities, however we were hopeful she would hit some significant milestones. Either way we knew we were going to be the best parents to Bella.

 

After four amazing days at home Bella stopped breathing. We were rushed to Boston Children’s Hospital and were admitted. By fate, Dr. Pankaj Agrawal happened to be attending that day and told us about a research study he was starting that used rapid whole exome sequencing to diagnose babies with complex cases to help determine their care. We enrolled in his study as the 3rd family to do so, but unfortunately Bella rapidly deteriorated. She was on life support and we were told she would not have any quality of life. Bella passed away on May 28, 2017 at just 27 days old. There are no words to describe this pain. We left the hospital with an empty car seat. An apartment full of her toys, clothes,and our shattered hearts were all we had left. Five days after Bella had passed, Dr. Agrawal called us and told us that the whole exome test indicated Bella may have suffered from an extremely rare disease known as HIBCH. This was a recessive disease which means that Ryan and I both have a mutation in our HIBCH gene which we both passed down to Bella, a 25% occurrence for any future children we would have.

 

The doctor explained that this disease was so rare and that Bella did not fit all the criteria so they needed to do additional testing to confirm this was the cause of her death. Dr. Agrawal asked us to come to his office a few months later, he had some news. They determined Bella was the 12th patient in the world to have HIBCH disease. She was the youngest known patient and the fastest to deteriorate. We finally had the information we needed, albeit, devastating. The whole exome genetic sequencing test was so crucial to Bella because it pointed doctors in the right direction to diagnose her. The results also allowed us to have more children because we were able to use Preimplantation Genetic Diagnosis IVF. We felt lucky to have this option, as it is a 25% chance every natural pregnancy that our baby could have HIBCH, a risk we were unwilling to take. Once we learned I was pregnant again, we knew what we would call him. Bella stayed alive long enough to give the genetic testing information we needed, she gave us a chance to have a healthy child. Chance is now 3 years old. He has a younger brother named Trey (our 3rd baby) who also is healthy and a product of this amazing science. We feel forever indebted to Dr. Agrawal and the science behind whole exome sequencing. We have made it a mission in our lives to help others in need of answers. Our non profit, Because of Bella raises money for Dr. Agrawal’s genetic research team at Boston Children’s Hospital. We couldn’t save Bella, but she is saving others and that is her legacy.